Junko Showguchi-Miyata

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa et al. · Nature Genetics · 2001 · 675 citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Genetics +7

Homo-oligomerization of ALS2 through Its Unique Carboxyl-terminal Regions Is Essential for the ALS2-associated Rab5 Guanine Nucleotide Exchange Activity and Its Regulatory Function on Endosome Trafficking

Ryota Kunita, Asako Otomo, Hikaru Mizumura et al. · Journal of Biological Chemistry · 2004 · 68 citations · Full text

ALS2CL, the novel protein highly homologous to the carboxy‐terminal half of ALS2, binds to Rab5 and modulates endosome dynamics

Shinji Hadano, Asako Otomo, Kyoko Suzuki-Utsunomiya et al. · FEBS Letters · 2004 · 41 citations

The RS447 Human Megasatellite Tandem Repetitive Sequence Encodes a Novel Deubiquitinating Enzyme with a Functional Promoter

Yasushi Saitoh, Natsuki Miyamoto, Takeya Okada et al. · Genomics · 2000 · 35 citations

Allelic Variant, Natural Sciences, Genetics +10

Identification and Characterization of the Miniature Pig Huntington's Disease Gene Homolog: Evidence for Conservation and Polymorphism in the CAG Triplet Repeat

Noriko Matsuyama, Shinji Hadano, Kyuichiro Onoe et al. · Genomics · 2000 · 29 citations

Biology, Genetic Disorder, Genetics +9